Results 211 to 220 of about 2,295,286 (383)

Proteomic Analysis of Golden Sputum Reveals Pulmonary Complement Activation During Acute Chest Syndrome in Children With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is one of the most common severe complications of sickle cell disease (SCD). In recent years, a major role of inflammation and innate immunity has been evidenced, but ACS pathophysiology remains incompletely understood, and therapeutic options are limited.
Slimane Allali, Nabiha Sbeih, Rachel Rignault‐Bricard, Johanna Bruce, Morgane Le Gall, Claire Heilbronner, Noemie de Cacqueray, Sofia Angyalosy, Melissa Taylor, Joséphine Brice, Mariane de Montalembert, Martina Bevacqua, Emilie‐Fleur Gautier, Olivier Hermine, Thiago Trovati Maciel   +14 more
wiley   +1 more source

From Q Fever to Coxiella burnetii Infection: a Paradigm Change

Clinical Microbiology Reviews, 2016
C. Eldin, C. Melenotte, O. Mediannikov, E. Ghigo, M. Million, S. Edouard, J. Mege, M. Maurin, D. Raoult   +8 more
semanticscholar   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

PFAPA syndrome study at Imam Khomeini Hospital Pediatrics Rheumatology Clinic in Ardabil from 2003 to 2007 [PDF]

Introduction: PFAPA(periodic fever, aphthous stomatitis, pharyngities, adenitis) syndrome is a new syndrome of periodic fevers that has been introduced in the past two decades.
جستان, مارینا, حبیب زاده, شهرام, دهقانزاده, رقیه, صالح زاده, فرهاد   +3 more
core  

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Treating Dengue haemorrhagic fever with fixed flat rate of fluid and intermittent fluid boluses: Insights from a specialized dengue treatment centre

International Journal of Infectious Diseases, 2020
L. Fernando, H. Wijesinghe, A. Pathmeswaran, D. Silva, M. Kumarihamy, T. Silva, R. Jayasuriya, D. Peiris, N. Jayasinghe, T. Somaratne   +9 more
doaj   +1 more source

Dynamics of virus excretion via different routes in pigs experimentally infected with classical swine fever virus strains of high, moderate or low virulence

, 2008
Eefke Weesendorp, Arjan Stegeman, W.L.A. Loeffen   +2 more
openalex   +2 more sources

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Nursing management decisions in fever: a mixed-methods approach to understanding. [PDF]

Int J Nurs Stud Adv
Chen LA, Fawcett TN, Chandler C, Weng TW.   +3 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source